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Article

Structural variation in the human genome.

Nature reviews. Genetics - 1 Feb 2006

Feuk Lars, Carson Andrew R, Scherer Stephen W

Abstract excerpt

The first wave of information from the analysis of the human genome revealed SNPs to be the main source of genetic and phenotypic human variation. However, the advent of genome-scanning technologies has now uncovered an unexpectedly large extent of what we term 'structural variation' in the human genome. This comprises microscopic and, more commonly, submicroscopic variants, which include deletions, duplications...

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PMID: 16418744
DOI: 10.1038/nrg1767

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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